1/25. The spectrum of dilated cardiomyopathy. The Johns Hopkins experience with 1,278 patients.This report describes the evaluation of 1,278 patients referred to The Johns Hopkins Hospital with dilated cardiomyopathy. After a careful history and physical examination, selected laboratory tests, and endomyocardial biopsy, a specific diagnosis was made in 49% of cases. In 16% of cases the biopsy demonstrated a specific histologic diagnosis. myocarditis and coronary artery disease were the most frequent specific diagnoses; 51% of patients were classified as idiopathic. Thus a rigorous and systematic search can demonstrate an underlying cause for approximately one-half of patients with unexplained cardiomyopathy. Endomyocardial biopsy plays a crucial role in this evaluation. Six cases are presented which demonstrate the utility of endomyocardial biopsy in specific clinical situations. In addition to its routine use in monitoring rejection in heart transplant recipients, endomyocardial biopsy is indicated in the evaluation of possible infiltrative cardiomyopathy, in differentiating restrictive cardiomyopathy from constrictive pericarditis, and in diagnosing and monitoring doxorubicin cardiotoxicity. The importance of diagnosing myocarditis remains controversial, and disagreement persists about the utility of immunosuppressive therapy in these patients. A combination of clinical and histologic features can divide patients with myocarditis into 4 subgroups--acute, fulminant, chronic active, and chronic persistent. This classification provides prognostic information and may identify those patients who may respond to immunosuppression, as well as those likely to have adverse outcomes from such treatment. The continued development of novel molecular techniques may allow endomyocardial biopsy to provide greater prognostic and therapeutic information in the future.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/25. hepatomegaly and cholestasis as primary clinical manifestations of an AL-kappa amyloidosis.A 53-year-old man, who presented with weight loss over a period of 10 months, hepatomegaly, markedly raised cholestatic enzymes and Ca 19-9, was initially suspected of suffering from metastatic cholangio-carcinoma. liver biopsy revealed depositions of AL-amyloid. Further investigations confirmed a generalized amyloidosis. Biopsies taken from the gastric, colonic, and bronchial mucosa all showed depositions of amyloid. A nephrotic syndrome was interpreted as being secondary to the renal involvement. echocardiography identified changes which were consistent with cardiac involvement. A plasmacytoma or lymphoma was excluded. At the time of diagnosis the patient was in a good physical condition with normal renal function. Within a few weeks the renal function deteriorated and after 2 months the patient developed ascites and became jaundiced. Four months after initial presentation the patient died from cardiac failure.- - - - - - - - - - ranking = 0.056337975689389keywords = physical (Clic here for more details about this article) |
3/25. Amyloid goiter in familial mediterranean fever (FMF): a clinicopathologic study of 10 cases.FMF amyloidosis is an important etiological factor of end stage renal disease (ESRD) in Mediterranean Countries. Apart from major target organs as cardiovascular, respiratory and gastrointestinal system, endocrine organs can also be involved. We planned to investigate the thyroid involvement in our amyloidosis group. The aim of this study was to determine clinical characteristics of amyloid goiter in FMF patients and the abnormalities of thyroid function, as well as to identify pathologic characteristics. Twenty-two hemodialysis patients (mean age 34.1 /- 14 years, range 17-68) whose ESRD secondary to FMF amyloidosis were evaluated with physical examination, serum levels of thyroid hormones, ultrasound examination of thyroid glands, thyroid syntigraphic studies. goiter was found in 10 patients (4 male, 6 female) having enlarged neck mass (mean age 35 /- 14 years, range 23-64). The serum levels of thyroid hormones and TSH were normal in 4 patients. Other four cases had euthyroid sick syndrome. Only one patient developed tender enlarged neck mass with subacute thyroiditis symptoms and one had primary hyperthyroidism. Ultrasound examination showed; hypoecoic nodules in 6 patients diffuse multinodular enlargement in 4 patients. Thyroid syntigraphic studies revealed hypoactive nodules in 7 patients and hyperactive nodules in 3 patients. After the laboratory tests were completed, in 10 patients diagnosis were made with fine needle aspiration biopsy. Of 10 patients 5 underwent subtotal thyroidectomy. Immunohistochemical evaluation demonstrated the presence of amyloid AA immunoreactivity in all cases. In conclusion fine needle aspiration from the thyroid when enlarged is useful in the diagnosis of suspected amyloidosis, especially since it is a safe, easily performed procedure. With the help of amyloid goiter diagnosis the patient's prognosis on hemodialysis and with renal transplantation can be predicted. Amyloid goiter must be searched in hemodialysis patients especially in Mediterranean Countries.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
4/25. light chain amyloidosis of the urinary bladder. A site restricted deposition of an externally produced immunoglobulin.AIMS:To identify the amyloid protein in a patient with amyloidosis localised to the urinary bladder, and to see whether subtyping of the protein by sequence analysis increases the understanding of the selection of the urinary bladder as the site of amyloid deposition. methods:A patient with gross haematuria and a congophilic mass in his urinary bladder was evaluated further. Characterisation of the amyloid protein was performed using conventional histological and immunohistochemical methods. Determination of the N-terminal amino acid sequence of the amyloid protein was performed using protein sequencers. RESULTS:The patient's history, physical examination, and laboratory evaluation excluded the involvement of other organs, justifying a diagnosis of amyloidosis localised to the urinary bladder. Histological and immunological studies showed that the amyloid protein deposited in the urinary bladder of the patient was probably of the amyloid light chain type. No plasma cells or lymphocytes were seen in sections of the urinary bladder and lower ureter adjacent to the amyloid deposits. Molecular analysis showed the sequence NFMLTQPHSISGSPG, which assigned the amyloid protein to either the Vlambda(I) or the Vlambda(VI) immunoglobulin (Ig) light chain families. CONCLUSIONS:The findings suggest that the amyloid protein in this patient originated outside the urinary bladder. The heterogeneity of the Ig proteins in known cases of amyloidosis of the lower urinary tract suggests that the amino acid residues, which determine the Vlambda subtyping, have no major role in restricting the deposited protein to the urinary bladder.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
5/25. A rare case of painless gross hematuria: primary localized AA-type amyloidosis of the urinary bladder.A 60-year-old Asian woman presented with a 1-year history of painless gross hematuria. She had no prior urologic history and no other medical problems. Her physical examination, urine cytology, and computed tomography scan were normal. cystoscopy demonstrated several punctate areas of erythema within the bladder. Biopsies revealed amyloidosis, and immunohistochemical staining of the specimens defined the process as amyloid AA (often called secondary amyloidosis). The workup for systemic conditions associated with amyloid AA was negative. This represents an unusual case of primary localized AA-type amyloidosis of the bladder.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
6/25. Nontraumatic, nonneoplastic subglottic stenosis.During a 20-year period, 12 patients with nontraumatic, nonneoplastic subglottic stenosis were seen at the Mayo Clinic. The etiologic factors were relapsing polychondritis, amyloidosis, sarcoidosis, and Wegener's granulomatosis. Because of the diverse initial presentation of the disease, the clinician should consider that the stenosis is a manifestation of a systemic disorder and carry out an otolaryngologic and physical examination with the appropriate roentgenograms and blood and urine tests. Treatment, if a systemic disease is proved, consists of appropriate medication. Surgery may be necessary, depending on the nature of the lesion. Small strictures may not need to be treated.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
7/25. Secondary amyloidosis in a corneal graft.PURPOSE: To describe a case of secondary amyloidosis that occurred in a corneal graft. methods: A 30-year-old Japanese woman had opacities in the corneal graft in her right eye. Slit-lamp microscopy examination demonstrated nodular, subepithelial opacities in the graft. Results of a physical examination and her past medical history were unremarkable, except for a history of a penetrating keratoplasty for keratoconus at the age of 17. Since then, the patient had worn a hard contact lens for over 10 years. The specimen obtained by keratectomy was examined histologically. RESULTS: The histologic examination revealed hyaline, and amorphous materials stained with congo red, which were dichroic under polarized light. Transmission electron microscopy showed the characteristic fibrillar pattern of amyloid. CONCLUSIONS: This appears to be the first reported case of secondary amyloidosis in a corneal graft. A long-standing history of hard contact lens wear may play a role in the pathogenesis of this rare condition.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
8/25. Secondary amyloidosis in Castleman's disease: review of the literature and report of a case.It is quite rare to diagnose secondary amyloidosis during the course of Castleman's disease (CD). A 51-year-old female who complained of fatigue, weight loss, and fever was diagnosed with CD -- plasma cell type -- in our hospital in 1993. One year after diagnosis, she developed nephrotic syndrome, the etiology of which was found to be secondary amyloidosis based on renal biopsy. As the patient rejected therapy, she was discharged after only symptomatic treatment. At her last follow-up in March 2001, she had no complaints; physical examination, blood chemistries, and urinalysis were normal. Abdominopelvic tomography revealed no lymphadenopathy in the abdomen, which had been previously present. We could identify 17 other cases of CD with secondary amyloidosis in the literature. Ours is the 18th such case and the 2nd case of multicentric CD leading to amyloidosis. This case also shows that CD might sometimes run a relatively benign course being cured with no therapy, whereas it might have a rapidly fatal downhill course -- even with therapy -- in others. Still, effective treatment strategies need to be developed.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
9/25. Amyloid myopathy: evidence for mechanical injury to the sarcolemma.Myopathy is a rare clinical manifestation in primary systemic amyloidosis. The clinical phenotype and muscle histology are well described but the pathophysiological mechanisms remain poorly understood. We report a 40-year-old man who presented with hypertrophic cardiomyopathy and a limb girdle syndrome associated with deposition of amyloid and free lambda light chains in skeletal muscle. Electron microscopy showed amyloid fibrils, physically disrupting the plasma membrane and basal lamina, while laminin immunocytochemistry revealed a reduction of laminin beta1 and upregulation of laminin alpha1. We believe that one of the possible pathophysiological mechanisms in amyloid myopathy is mechanical disruption of the sarcolemma by the abutting amyloid fibrils.- - - - - - - - - - ranking = 0.056337975689389keywords = physical (Clic here for more details about this article) |
10/25. heart transplantation in a 68-year-old patient with senile systemic amyloidosis.Senile systemic amyloidosis (SSA) results from deposition, predominantly in the heart, of amyloid fibrils derived from wild-type transthyretin (T TR) molecules. Cardiac autopsies indicate that SSA progressively increases in subjects 80 years of age and older. However, only a few cases of patients with SSA and cardiac failure have been recognized by cardiac biopsies during life. Here, we report a case of heart transplantation in a 68-year-old male patient with SSA. After cardiopulmonary resuscitation in October 1998, he underwent complete evaluation. Myocardial biopsies revealed the presence of amyloid deposition. Immunohistochemical staining of the amyloid indicated T TR. Genomic dna analysis of the T TR exons did not result in any identification of a mutation. In 2001, heart transplantation was performed because progressive heart failure occurred. At the 1-year follow-up, no amyloid deposits were found in the donor heart. At the 2-year follow-up, the patient's physical and mental health was excellent. We conclude that heart transplantation can be an effective treatment in progressive heart failure due to SSA.- - - - - - - - - - ranking = 0.056337975689389keywords = physical (Clic here for more details about this article) |
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